27030[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	ABCD4, ACOT1 +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 148020	GRCh38/hg38 14q24.3(chr14:74986195-76399258)x1	ACYP1, BATF +71 more	Copy number loss	See cases	GUncertain significance
Select item 260364	NM_014239.4(EIF2B2):c.*3G>C	EIF2B2, MLH3	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease +2 more	GLikely benign
Select item 314340	NM_014239.4(EIF2B2):c.*56C>T	EIF2B2, MLH3	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease +1 more	GLikely benign
Select item 314342	NM_014239.4(EIF2B2):c.*180G>C	EIF2B2, MLH3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 888332	NM_001040108.2(MLH3):c.*3258T>C	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 314344	NM_001040108.2(MLH3):c.*3206C>T	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 314345	NM_001040108.2(MLH3):c.*3148A>G	EIF2B2, MLH3	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 888333	NM_001040108.2(MLH3):c.*3140C>G	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 314346	NM_001040108.2(MLH3):c.*3140C>T	EIF2B2, MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7 +2 more	GLikely benign
Select item 314347	NM_001040108.2(MLH3):c.*3105C>G	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 888334	NM_001040108.2(MLH3):c.*3094C>T	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 314348	NM_001040108.2(MLH3):c.*3048del	MLH3	Deletion (3 prime UTR variant)	Lynch syndrome	GUncertain significance
Select item 885222	NM_001040108.2(MLH3):c.*3047G>T	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 314349	NM_001040108.2(MLH3):c.*2965C>T	EIF2B2, MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7 +2 more	GBenign/Likely benign
Select item 885223	NM_001040108.2(MLH3):c.*2679A>G	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 314350	NM_001040108.2(MLH3):c.*2590T>C	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 885224	NM_001040108.2(MLH3):c.*2495C>T	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 885225	NM_001040108.2(MLH3):c.*2470C>T	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 885226	NM_001040108.2(MLH3):c.*2469A>G	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 314351	NM_001040108.2(MLH3):c.*2417G>A	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GBenign
Select item 886122	NM_001040108.2(MLH3):c.*2407T>C	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 886123	NM_001040108.2(MLH3):c.*2398C>A	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 314352	NM_001040108.2(MLH3):c.*2174C>T	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 314353	NM_001040108.2(MLH3):c.*2086C>T	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 886124	NM_001040108.2(MLH3):c.*2058G>T	MLH3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 314354	NM_001040108.2(MLH3):c.*1990T>A	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 314355	NM_001040108.2(MLH3):c.*1896A>G	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 314356	NM_001040108.2(MLH3):c.*1877T>C	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GBenign
Select item 887125	NM_001040108.2(MLH3):c.*1767G>A	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 314357	NM_001040108.2(MLH3):c.*1701del	MLH3	Deletion (3 prime UTR variant)	Lynch syndrome	GUncertain significance
Select item 887126	NM_001040108.2(MLH3):c.*1674T>C	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 887127	NM_001040108.2(MLH3):c.*1628G>A	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 887128	NM_001040108.2(MLH3):c.*1566G>A	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 887129	NM_001040108.2(MLH3):c.*1470C>T	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 314358	NM_001040108.2(MLH3):c.*1452G>T	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 887130	NM_001040108.2(MLH3):c.*1448G>A	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 887131	NM_001040108.2(MLH3):c.*1447C>T	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 888390	NM_001040108.2(MLH3):c.*1381T>C	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 314359	NM_001040108.2(MLH3):c.*1376C>T	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 314360	NM_001040108.2(MLH3):c.*1347T>G	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 314361	NM_001040108.2(MLH3):c.*1341del	MLH3	Deletion (3 prime UTR variant)	Lynch syndrome	GLikely benign
Select item 888391	NM_001040108.2(MLH3):c.*1312G>A	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 888392	NM_001040108.2(MLH3):c.*1291G>A	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 314362	NM_001040108.2(MLH3):c.*1237A>G	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 888393	NM_001040108.2(MLH3):c.*1235T>C	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 888394	NM_001040108.2(MLH3):c.*1159A>C	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 885283	NM_001040108.2(MLH3):c.*1110T>C	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 885284	NM_001040108.2(MLH3):c.*1073A>C	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 314364	NM_001040108.2(MLH3):c.957_958delinsAT	MLH3	Indel (3 prime UTR variant)	Lynch syndrome	GUncertain significance
Select item 314363	NM_001040108.2(MLH3):c.*958G>T	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GBenign
Select item 314365	NM_001040108.2(MLH3):c.*957C>A	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GBenign
Select item 314366	NM_001040108.2(MLH3):c.*889G>A	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 885285	NM_001040108.2(MLH3):c.*888C>T	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 885286	NM_001040108.2(MLH3):c.*884C>G	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 314367	NM_001040108.2(MLH3):c.*797dup	MLH3	Duplication (3 prime UTR variant)	Lynch syndrome	GUncertain significance
Select item 314368	NM_001040108.2(MLH3):c.*772T>A	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 886185	NM_001040108.2(MLH3):c.*755T>C	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 314369	NM_001040108.2(MLH3):c.*744A>G	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 886186	NM_001040108.2(MLH3):c.*646G>A	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 886187	NM_001040108.2(MLH3):c.*563A>G	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 886188	NM_001040108.2(MLH3):c.*541A>G	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 886189	NM_001040108.2(MLH3):c.*187T>C	MLH3	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 3029938	NM_001040108.2(MLH3):c.*7A>T	MLH3	Single nucleotide variant (3 prime UTR variant)	MLH3-related condition	GLikely benign
Select item 945281	NM_001040108.2(MLH3):c.4360T>C (p.Ter1454Arg)	MLH3	Single nucleotide variant (stop lost)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2561657	NM_001040108.2(MLH3):c.4358C>T (p.Pro1453Leu)	MLH3 (P1453L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1739965	NM_001040108.2(MLH3):c.4357C>A (p.Pro1453Thr)	MLH3 (P1429T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1389392	NM_001040108.2(MLH3):c.4357C>T (p.Pro1453Ser)	MLH3 (P1453S +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7 +1 more	GUncertain significance
Select item 2841676	NM_001040108.2(MLH3):c.4354C>T (p.Pro1452Ser)	MLH3 (P1428S +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 1739948	NM_001040108.2(MLH3):c.4353G>A (p.Glu1451=)	MLH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2255443	NM_001040108.2(MLH3):c.4352A>C (p.Glu1451Ala)	MLH3 (E1427A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1387806	NM_001040108.2(MLH3):c.4351G>C (p.Glu1451Gln)	MLH3 (E1427Q +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7 +1 more	GUncertain significance
Select item 5562	NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys)	MLH3 (E1451K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1739901	NM_001040108.2(MLH3):c.4348T>C (p.Cys1450Arg)	MLH3 (C1426R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1577116	NM_001040108.2(MLH3):c.4347C>T (p.Pro1449=)	MLH3	Single nucleotide variant (synonymous variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 1739888	NM_001040108.2(MLH3):c.4346C>G (p.Pro1449Arg)	MLH3 (P1449R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1739868	NM_001040108.2(MLH3):c.4342C>G (p.Pro1448Ala)	MLH3 (P1424A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2448595	NM_001040108.2(MLH3):c.4339A>C (p.Met1447Leu)	MLH3 (M1423L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1739825	NM_001040108.2(MLH3):c.4338C>T (p.Ser1446=)	MLH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2811502	NM_001040108.2(MLH3):c.4335A>T (p.Gln1445His)	MLH3 (Q1421H +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 257253	NM_001040108.2(MLH3):c.4335A>G (p.Gln1445=)	MLH3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1739792	NM_001040108.2(MLH3):c.4331A>C (p.Gln1444Pro)	MLH3 (Q1444P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1739749	NM_001040108.2(MLH3):c.4329G>A (p.Leu1443=)	MLH3	Single nucleotide variant (synonymous variant)	Colorectal cancer, hereditary nonpolyposis, type 7 +1 more	GLikely benign
Select item 1606881	NM_001040108.2(MLH3):c.4326C>T (p.Ser1442=)	MLH3	Single nucleotide variant (synonymous variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 1739728	NM_001040108.2(MLH3):c.4325G>A (p.Ser1442Asn)	MLH3 (S1418N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 852404	NM_001040108.2(MLH3):c.4324A>G (p.Ser1442Gly)	MLH3 (S1418G +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 1739716	NM_001040108.2(MLH3):c.4323G>A (p.Gln1441=)	MLH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 647488	NM_001040108.2(MLH3):c.4321C>T (p.Gln1441Ter)	MLH3 (Q1417* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1509444	NM_001040108.2(MLH3):c.4319G>C (p.Arg1440Thr)	MLH3 (R1440T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2448679	NM_001040108.2(MLH3):c.4318A>G (p.Arg1440Gly)	MLH3 (R1416G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2448650	NM_001040108.2(MLH3):c.4313A>C (p.Asp1438Ala)	MLH3 (D1438A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1739642	NM_001040108.2(MLH3):c.4312G>A (p.Asp1438Asn)	MLH3 (D1438N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2625658	NM_001040108.2(MLH3):c.4310delinsACTCTT (p.Cys1437fs)	MLH3 (C1413fs +1 more)	Indel (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2623957	NM_001040108.2(MLH3):c.4310G>A (p.Cys1437Tyr)	MLH3 (C1437Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1739605	NM_001040108.2(MLH3):c.4309T>C (p.Cys1437Arg)	MLH3 (C1413R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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